New Scoliosis Guidelines For Rett SyndromeDavid P. Roye, Jr., MD, Chief of Pediatric Orthopaedic Surgery at the Morgan Stanley Children’s Hospital of New York-Presbyterian, and his Pediatric Orthopaedic Research team collaborated with the Telethon Institute for Child Health in Western Australia, and international Rett syndrome organizations to develop a comprehensive guide to the best management of scoliosis for Rett syndrome patients. Dr. Roye said many of his Rett syndrome patient’s parents are faced with a difficult decision regarding surgery for their daughters. “The information available to them on management of this disorder has been poor.” The new booklet titled “Scoliosis in Rett Syndrome: A Collaboration between Parents, Clinicians and Researchers,” contains a set of guidelines based on the findings of a research paper that was published in the latest edition of the international journal SPINE. Co-author Jenny Downs, PhD who led the project at Perth’s Telethon Institute for Child Health Research, said “While there are many experienced clinicians in many different countries, that knowledge had not previously been collated or shared.” Clinicians with Rett syndrome experience from different countries in the disciplines of orthopaedics, spinal surgery, pediatrics, pediatric neurology, clinical genetics, anesthesia, nursing, physiotherapy and occupational therapy were identified through networks of researchers, publications and the Australian Rett syndrome and InterRett databases. A Rettnet request was posted for parents to recommend clinicians with appropriate expertise. Additional collegial recommendations were used to expand the sample. The international panel of expert clinicians reviewed drafts of guidelines until agreement on the statements describing practice was reached. A panel of parents of a child with Rett syndrome also checked that their concerns were addressed. “Scoliosis is a common orthopedic complication of Rett syndrome with about three quarters affected by the age of 13 years,” Dr Downs said. “These guidelines take a life-span approach, commencing before the development of scoliosis and including comprehensive management from medical, therapy and surgical specialists. It is our hope that the guidelines will support clinicians with less experience, promote discussion between clinicians and parents, and stimulate research to improve management in this condition.” The booklet titled “Scoliosis in Rett syndrome: A collaboration between parents, clinicians and researchers” can be accessed on line at https://interrett.ichr.uwa.edu.au/pages_english/scol_guidelines.php Citation: Jenny Downs, PhD, Anke Bergman, MPH, Philippa Carter, MBBS, Alison Anderson, BSc, Greta M. Palmer, FANZCA, David Roye, MD, Harold van Bosse, MD, Ami Bebbington, BSc, Eva Lena Larsson, OTR, PhD, Brian G. Smith, MD, Gordon Baikie, MD, Sue Fyfe, PhD, and Helen Leonard, MBChB; Guidelines for Management of Scoliosis in Rett Syndrome Patients Based on Expert Consensus and Clinical Evidence, SPINE Volume 34, Number 17, pp E607–E617 Rett syndrome is a rare developmental disorder affecting 1 in 10,000 people in the US. Because Rett syndrome is linked to a mutation on the X chromosome, it is usually only found in girls. Children are generally born clinically normal, but their development begins to slow between the ages of 7 and 18 months – missing major milestones such as crawling, walking and talking. It is a progressive neurological disorder exhibiting reduced muscle tone, loss of purposeful use of the hands and a diminished ability to communicate and express feelings. There is no known cure.
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